Search Results - "Ayling, RM"

A dominant-negative mutation of the growth hormone receptor causes familial short stature by Ayling, Ruth M, Buchanan, Charles R, Clayton, Peter E, Ross, Richard, Moutoussamy, Soraya, Norman, Michael R, Towner, Paul, Finidori, Joëlle, Laue, Sigward Von

“…We wish to describe identification of a dominant-negative mutation in the growth hormone (GH) receptor which reveals the existence of a new category of…”
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Hepatic hemangioendothelioma associated with production of humoral thyrotropin-like factor by Ayling, Ruth M., Davenport, Mark, Hadzic, Nedim, Metcalfe, Russell, Buchanan, Charles R., Howard, Edward R., Mieli-Vergani, Giorgina

“…We report on 7 patients referred for treatment of hepatic hemangioendothelioma with increased thyrotropin levels. The serum thyroxine level was decreased in 4…”
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Increased urinary dopamine excretion in association with bilateral carotid body tumours-- clinical, biochemical and genetic findings by Jeffery, J, Devendra, D, Farrugia, J, Gardner, D, Murphy, M J, Williams, R, Ayling, R M, Wilkin, T J

“…This report describes a rare case of a patient with increased urinary dopamine excretion in association with bilateral carotid body tumours. Excretion of…”
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Pitfalls in the interpretation of common biochemical tests by Ayling, Ruth M

“…This review considers some of the more common problems in the interpretation of the results of biochemical tests and, where possible, highlights ways in which…”
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Signal transduction defects in growth hormone insensitivity by Clayton, PE, Freeth, JS, Whatmore, AJ, Ayling, RM, Norman, MR, Silva, CM

“…Clayton PE, Freeth JS, Whatmore AJ, Ayling RM, Norman MR, Silva CM. Signal transduction defects in growth hormone insensitivity. Acta Pædiatr 1999; Suppl 428:…”
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Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome by FREETH, J. S, AYLING, R. M, WHATMORE, A. J, TOWNER, P, PRICE, D. A, NORMAN, M. R, CLAYTON, P. E

“…Congenital GH insensitivity (Laron's syndrome, LS) is often associated with a dysfunctional GH receptor (GHR) causing complete insensitivity to GH and absent…”
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New growth hormone receptor exon 9 mutation causes genetic short stature by Ayling, RM, Ross, RJM, Towner, P, Laue, S Von, Finidori, J, Moutoussamy, S, Buchanan, CR, Clayton, PE, Norman, MR

“…Ayling RM, Ross RJM, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR. Acta Pa; diatr 1999; Suppl 428: 168–72. Stockholm…”
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Giant cell tumor in a patient with osteopoikilosis by Ayling, R M, Evans, P E

“…A giant cell tumor developed in the distal femur of a 26-year-old man with preexisting osteopoikilosis. The authors are not aware of previous similar reports…”
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Xanthogranulomatous cholecystitis in a 10-year-old boy by AYLING, R. M, HEATON, N. D, DAVENPORT, M, DRIVER, M, HOWARD, E. R

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